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Table 2 Biochemical findings in MSD patients

From: Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

Patients 1 2 3 4 5 6 7 8 9 10
Sulfatases (% of control)           
  ArsA 4 14 10 5 3 3 5 2 8 7
  ArsB 16 13 6 5 ND 7 ND 9 4 ND
  ArsC 15 6 ND 4 ND 2 ND ND 7 ND
  IDS 7 3 4 2 20 ND 3 1 ND 0
  SGSH ND 19 ND ND ND ND ND 0.5 ND 0
  G6S ND 0 ND ND ND ND ND ND ND 2
  GalNS ND 5 ND ND 28 2 ND ND ND ND
   Mean 11 9 7 4 17 4 4 3 6 2
Urinary GAG (mg/mmol creatinine) 0.1; 0.2   GAG: 18.8; 14.4 GAG: 0.3 GAG: 18.1; 11 ND GAG: 12.5 ND GAG: 22 GAG: 33
(control: <1.8)   (control: <13) (control: <2.6) (control: <13)   (control: <3.3)   (control: <8) (control: <6.3)
HS: 20%; HS:+++ HS: traces     HS++++; CS+++   HS: 88.5%; HS+++; CS+++
CS: 80%; DS: +++      DS+; KS: traces   CS: 11.5%; no DS++; no KS
no DS         DS; no KS  
Urinary sulfatides (nmol/mmol creatinine) 88 (control: < 40) positive ND positive 263 (control: < 40) ND ND ND ND ND
  1. Sulfatase activities were determined on lysates of peripheral blood leukocytes, and are expressed as percentage of the values measured in control samples. Abnormal urinary excretion of glycosaminoglycans and sulfatides is indicated (note that distinct methods were employed by different laboratories). Abbreviations: ArsA arylsulfatase A, ArsB arylsulfatase B, ArsC arylsulfatase C, IDS iduronate 2-sulfatase, SGSH N-sulfoglucosamine sulfohydrolase, G6S glucosamine 6-sulfatase, GalNS galactosamine 6-sulfatase, GAG glycosaminoglycans, HS heparan sulfate, DS dermatan sulfate, KS keratan sulfate, CS chondroitin sulphate, ND not determined.